Canonical Allele Identifier: CA5975691

Gene: SLC39A13

Linked Data

• ClinVar Variation Id: 513107
• ClinVar RCV Id: RCV000876585 ; RCV001087348 ; RCV003962788
• dbSNP Id: rs34986695
• ExAC: 11:47431861 C / T
• gnomAD v2: 11-47431861-C-T
• gnomAD v3: 11-47410310-C-T
• gnomAD v4: 11-47410310-C-T
• MyVariant Identifiers: chr11:g.47431861C>T (hg19) ; chr11:g.47410310C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47410310C>T , CM000673.2:g.47410310C>T	GRCh38
NC_000011.9:g.47431861C>T , CM000673.1:g.47431861C>T	GRCh37
NC_000011.8:g.47388437C>T	NCBI36
NG_017073.1:g.6816C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.216C>T MANE Select	ENSP00000354689.4:p.Leu72=
ENST00000354884.8:c.216C>T	ENSP00000346956.4:p.Leu72=
ENST00000362021.8:c.216C>T	ENSP00000354689.4:p.Leu72=
ENST00000524928.1:c.216C>T	ENSP00000437186.1:p.Leu72=
ENST00000526614.5:c.216C>T	ENSP00000432499.1:p.Leu72=
ENST00000527091.1:c.216C>T	ENSP00000435076.1:p.Leu72=
ENST00000531419.5:c.216C>T	ENSP00000432302.1:p.Leu72=
ENST00000531865.5:c.216C>T	ENSP00000434684.1:p.Leu72=
ENST00000531974.5:c.216C>T	ENSP00000435845.1:p.Leu72=
ENST00000533076.5:c.216C>T	ENSP00000434290.1:p.Leu72=
NM_001128225.2:c.216C>T	NP_001121697.1:p.Leu72=
NM_152264.4:c.216C>T	NP_689477.2:p.Leu72=
XM_006718381.2:c.261C>T	XP_006718444.1:p.Leu87=
XM_006718383.2:c.261C>T	XP_006718446.1:p.Leu87=
XM_006718384.2:c.261C>T	XP_006718447.1:p.Leu87=
XM_006718385.2:c.261C>T	XP_006718448.1:p.Leu87=
XM_011520466.1:c.261C>T	XP_011518768.1:p.Leu87=
XM_011520467.1:c.216C>T	XP_011518769.1:p.Leu72=
XM_011520468.1:c.216C>T	XP_011518770.1:p.Leu72=
XM_011520469.1:c.261C>T	XP_011518771.1:p.Leu87=
XM_011520470.1:c.216C>T	XP_011518772.1:p.Leu72=
XM_011520471.1:c.261C>T	XP_011518773.1:p.Leu87=
XM_011520472.1:c.261C>T	XP_011518774.1:p.Leu87=
XR_242832.1:n.626C>T
XR_428862.2:n.297C>T
XR_428863.2:n.297C>T
XR_930928.1:n.297C>T
NM_001330245.1:c.216C>T	NP_001317174.1:p.Leu72=
NR_134854.1:n.482C>T
XM_006718381.3:c.261C>T	XP_006718444.1:p.Leu87=
XM_006718383.3:c.261C>T	XP_006718446.1:p.Leu87=
XM_011520468.3:c.216C>T	XP_011518770.1:p.Leu72=
XM_011520470.2:c.216C>T	XP_011518772.1:p.Leu72=
XM_017018540.2:c.216C>T	XP_016874029.1:p.Leu72=
XM_017018541.2:c.216C>T	XP_016874030.1:p.Leu72=
XM_024448762.1:c.216C>T	XP_024304530.1:p.Leu72=
XR_001748027.1:n.297C>T
XR_001748028.1:n.297C>T
XR_428862.3:n.297C>T
XR_428863.3:n.297C>T
XR_930928.2:n.297C>T
NM_001128225.3:c.216C>T MANE Select	NP_001121697.2:p.Leu72=
NM_001330245.2:c.216C>T	NP_001317174.2:p.Leu72=
NM_152264.5:c.216C>T	NP_689477.3:p.Leu72=